Research is a key part of our output, and we work collaboratively with partners across the country, within the NHS, academia and the wider genomics landscape, to help improve outcomes for patients. Below you will see a selection of projects we are currently leading or contributing to at Central and South Genomics.

The Genomic Networks of Excellence are eight innovative networks, established by NHS England to develop the evidence and model of adoption for cutting edge genomic advances and technology applications that will be transformative for patients. They are partnerships between the NHS, academia, the third sector and industry to leverage expertise and resources from the broader genomics ecosystem, and to ensure there is a route towards rapid informing commissioning decisions. Alongside our regional counterparts, we are involved in a number of these networks, notably the Genomic AI Network of Excellence and the Severe Presentation of Infectious Disease network.

The Generation Study is a research programme being led by Genomics England in partnership with the NHS. The study aims to undertake Whole Genome Sequencing on 100,000 newborn babies to help understand whether we can improve our ability to diagnose and treat genetic conditions. We are working on the Generation Study at a regional level; helping NHS Trusts across our region who are currently recruiting to the study, or in the process of setting up to start recruiting; supporting our regional results co-ordinators who are responsible for co-ordinating the return of condition suspected results to parents; engaging with our local communities to raise awareness of the study to increase equitable and accessible recruitment of participants from diverse backgrounds; and raising awareness of the study amongst our partners, support groups, clinicians and other healthcare staff across our region.

The Lynch Syndrome Transformation Project, which ran from 2019-2024, arose to support NHS England in its aim for all surgical and oncology teams in colorectal and gynaecology to offer genetic testing for Lynch syndrome as part of routine patient pathways. As a team, we helped to establish a Lynch MDT Champion within each colorectal and gynae cancer MDT​​, as well as working to upskill the workforce to identify eligible patients for testing and delivering mainstreamed constitutional gene testing​​. In the latter half of 2024/2025, the CAS Lynch team, led by two Lynch Clinical Nurse Specialists, have moved towards implementing primary care training, with the aim of supporting GP’s in the management of Lynch patients within their clinical caseloads and achieving a high standard of lifelong care.

The Sudden Unexpected Death Project seeks to establish an effective and equitable pathway that enables families affected by a sudden unexpected death to access genetic testing and specialised cardiac care when necessary. The project is actively implementing a structured approach to improving access to specialist care for families affected by SUD. This multidisciplinary effort involves collaboration between experts across different medical and legal fields, ensuring that best practices are adopted nationwide. The project has now progressed to a broader implementation phase, with more than seven sites participating across England.

The Cancer Genomics Improvement Programme (CGIP) aims to achieve clinically defined, end-to-end turnaround times for solid tumours and haematological cancers, in response to pressure from NHSE Cancer Programme and clinical teams for improvement. The CGIP is nationally led with regional teams and tumour-site experts, who work together to leverage evidence, develop and implement action plans, implement improvements and collaborate directly with local teams. Click here to learn more.